Search results for "Beals-Hecht syndrome"
showing 2 items of 2 documents
Beals–Hecht syndrome and choroidal neovascularization
2010
PURPOSE To describe a case of choroidal neovascularization (CNV) in a female diagnosed with Beals-Hecht syndrome. METHODS A retrospective, interventional case is described in a 26-year-old female complaining of metamorphopsia and visual loss in her left eye (counting fingers). The fluorescein angiogram and the optical coherence tomography supported the diagnosis of CNV. Intravitreal ranibizumab was administered. RESULTS After the third intravitreal ranibizumab, her visual acuity improved to 0.8 and the morphology of the macular area was restored. CONCLUSIONS To our knowledge this is the first report of CNV in Beals-Hecht syndrome treated with ranibizumab. Self-monitoring by periodically per…
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
2009
International audience; Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome. Identifying not only what is in common but also what differentiates these two proteins should enable us to better comprehend their respective functions and better understand the multitude of diseases in which these two genes are involved. In 1995 we created a locus-specific database (LSDB) for FBN1 mutations with the Universal Mutation Database (UMD) tool. To facilitate comparison of …